GTR Home > Tests > Congenital Myasthenic Syndrome Sequencing Panel

Overview

Test name

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Congenital Myasthenic Syndrome Sequencing Panel

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Monitoring, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Condition

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9 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
ESequence analysis of select exons
Microarray

Summary of what tested

13 genes and variants. Click Methodology tab for more information.

Genes and variants

Clinical validity

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Congenital myasthenic syndromes are inherited in an autosomal recessive, or, less frequently, autosomal dominant manner. In autosomal recessive CMS (AR-CMS), the parents of an affected child are obligate heterozygotes and therefore carry one mutant allele. Heterozygotes (carriers) are asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. In autosomal dominant CMS (AD-CMS), some individuals have an affected parent while others have a de novo mutation. The proportion of cases caused by de novo mutations is unknown. Each child of an individual with AD-CMS has a 50% chance of inheriting the mutation. Prenatal testing for pregnancies at increased risk is possible through laboratories offering either testing for the gene of interest or custom testing.

Citations
  • Abicht A, Müller J S, Lochmüller H. Congenital Myasthenic Syndromes. 2003 May 9 [Updated 2012 Jun 28]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1168/

Clinical utility

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Establish or confirm diagnosis

Citations
  • Abicht A, Müller J S, Lochmüller H. Congenital Myasthenic Syndromes. 2003 May 9 [Updated 2012 Jun 28]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1168/

How to order

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All samples should be shipped via overnight delivery at room temperature. No weekend or holiday deliveries. Label each specimen with the patient’s name, date of birth and date sample collected. Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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